✦ LIBER ✦

Evidence for a Niemann–Pick C (NPC) Gene Family: Identification and Characterization of NPC1L1

✍ Scribed by Joanna P. Davies; Brynn Levy; Yiannis A. Ioannou

Book ID: 115615067
Publisher: Elsevier Science
Year: 2000
Tongue: English
Weight: 640 KB
Volume: 65
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.2000.6151

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of the putative native

Characterization of the putative native and recombinant rat sterol transporter Niemann-Pick C1 Like 1 (NPC1L1) protein

✍ Sai Prasad N. Iyer; Xiaorui Yao; James H. Crona; Lizbeth M. Hoos; Glen Tetzloff; 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 647 KB

Niemann–Pick type C disease: Novel NPC1

Niemann–Pick type C disease: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency

✍ Hiroaki Tamura; Tsutomu Takahashi; Nobuhiro Ban; Hiroyuki Torisu; Haruaki Ninomi 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 854 KB

Characterisation of two deletions involv

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

✍ Laura Rodríguez-Pascau; Claudio Toma; Judit Macías-Vidal; Mónica Cozar; Bru Corm 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 479 KB

Mo1802 Epigenetic Modulation of Intestin

Mo1802 Epigenetic Modulation of Intestinal Cholesterol Transporter Niemann Pick-C1-Like 1 (NPC1L1) Gene Expression by DNA Methylation

✍ Malhotra, Pooja; Anbazhagan, Arivarasu Natarajan; Kumar, Anoop; Soni, Vinay; Dud 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 180 KB

Antisense oligonucleotide treatment for

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

✍ Laura Rodríguez-Pascau; Maria Josep Coll; Lluïsa Vilageliu; Daniel Grinberg 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 498 KB 👁 1 views

Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o

Identification of Surface Residues on Ni

Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes

✍ Michael L. Wang; Massoud Motamed; Rodney E. Infante; Lina Abi-Mosleh; Hyock Joo 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 929 KB